Varaico: Literature-Extracted Genetic Variants

RAD50

1,231 papers

RefSeq Summary

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protei...

Pfam Domains

AAA_23aa 6–235UCSCAAA domain

Rad50_zn_hookaa 659–712UCSCRad50 zinc hook motif

SbcC_Walker_Baa 1173–1251UCSCSbcC/RAD50-like, Walker B motif

Gene Aliases

HGNC Name

RAD50 double strand break repair protein

HGNC Alias Symbols

hRad50; RAD50-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005732.4

p.F396S

c.1187T>C

Surrounding Variants

1 paper

NM_005732.4

p.F396L

c.1188T>A

1 paper

NM_005732.4

p.F396L

c.1186T>C

1 paper

NM_005732.4

p.F396V

c.1186T>G

1 paper

NM_005732.4

p.F396L

c.1188T>G

2 papers

NM_005732.4

p.H397Y

c.1189C>T

2 papers

NM_005732.4

p.N395K

c.1185T>A

2 papers

NM_005732.4

p.N395K

c.1185T>G

2 papers

NM_005732.4

p.F396insFs

c.1188dupT

1 paper

NM_005732.4

p.N395T

c.1184A>C

1 paper

NM_005732.4

p.N395S

c.1184A>G

1 paper

NM_005732.4

p.F396delFs

c.1188delT

1 paper

NM_005732.4

p.K398delFs

c.1194delA